Incidental Mutation 'IGL01063:Kcnq2'
| ID | 50383 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Kcnq2
|
|---|
| Ensembl Gene |
ENSMUSG00000016346 |
|---|
| Gene Name | potassium voltage-gated channel, subfamily Q, member 2 |
|---|
| Synonyms | KQT2, Nmf134 |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Essential (E-score: 1.000)
|
|---|
| Stock # | IGL01063
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 2 |
|---|
| Chromosomal Location | 181075579-181135300 bp(-) (GRCm38) |
|---|
| Type of Mutation | unclassified |
|---|
| DNA Base Change (assembly) |
A to G
at 181109789 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000103051]
[ENSMUST00000149964]
[ENSMUST00000197015]
[ENSMUST00000129695]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016491
|
|---|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.3e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
595 |
2e-59 |
PFAM |
|
Pfam:KCNQ_channel
|
593 |
673 |
1.7e-22 |
PFAM |
|
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049792
|
|---|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.2e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
565 |
3.1e-55 |
PFAM |
|
Pfam:KCNQ_channel
|
587 |
668 |
6.8e-23 |
PFAM |
|
low complexity region
|
706 |
718 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081528
|
|---|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
4.3e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.7e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
564 |
2.3e-55 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103047
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.1e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
424 |
583 |
2e-59 |
PFAM |
|
Pfam:KCNQ_channel
|
581 |
661 |
1.7e-22 |
PFAM |
|
low complexity region
|
699 |
711 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103048
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
6.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.3e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103049
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
35 |
268 |
3.7e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
181 |
261 |
1.1e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
392 |
584 |
1e-92 |
PFAM |
|
Pfam:KCNQ2_u3
|
591 |
679 |
3.9e-39 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
692 |
791 |
1.1e-48 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103050
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103051
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.9e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
446 |
647 |
1.7e-82 |
PFAM |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
747 |
849 |
1.7e-51 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123336
|
|---|
| SMART Domains |
Protein: ENSMUSP00000130700
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
2.2e-30 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.6e-15 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129073
|
|---|
| SMART Domains |
Protein: ENSMUSP00000127061
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
1e-28 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
3.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
565 |
3e-55 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129361
|
|---|
| SMART Domains |
Protein: ENSMUSP00000131756
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
310 |
7.6e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
311 |
2.9e-14 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149964
|
|---|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
324 |
4.4e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.3e-14 |
PFAM |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
Pfam:KCNQ_channel
|
466 |
659 |
6.2e-94 |
PFAM |
|
Pfam:KCNQ2_u3
|
666 |
754 |
4.5e-39 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
767 |
866 |
1.2e-48 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154164
|
|---|
| SMART Domains |
Protein: ENSMUSP00000131544
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
1.4e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
7.8e-15 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144592
|
|---|
| SMART Domains |
Protein: ENSMUSP00000133237
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
5.6e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.2e-14 |
PFAM |
|
low complexity region
|
398 |
415 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197015
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129695
|
|---|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
14 |
198 |
6.8e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
123 |
203 |
2.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
320 |
521 |
1.3e-82 |
PFAM |
|
low complexity region
|
559 |
571 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
621 |
723 |
1.3e-51 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139458
|
|---|
| SMART Domains |
Protein: ENSMUSP00000130633
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
324 |
2.6e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
9.7e-15 |
PFAM |
|
low complexity region
|
408 |
425 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140789
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197599
|
|---|
| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 |
V124I |
probably damaging |
Het |
| 4930444P10Rik |
A |
T |
1: 16,078,646 |
L61* |
probably null |
Het |
| Abca7 |
T |
C |
10: 80,011,297 |
I1705T |
probably damaging |
Het |
| Ablim1 |
T |
A |
19: 57,061,328 |
I393F |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,899,834 |
L145P |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,948,429 |
I537T |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,162,313 |
I190V |
possibly damaging |
Het |
| Camk1 |
T |
A |
6: 113,338,372 |
D155V |
probably damaging |
Het |
| Cdh6 |
A |
C |
15: 13,064,495 |
I103S |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,181,788 |
D537G |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,802,332 |
K1144E |
probably damaging |
Het |
| Cpeb1 |
T |
A |
7: 81,372,181 |
E71D |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,195,166 |
L904P |
possibly damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,904,210 |
F700I |
probably damaging |
Het |
| Dmp1 |
G |
A |
5: 104,207,099 |
M1I |
probably null |
Het |
| Efcab6 |
A |
T |
15: 84,054,512 |
M1K |
probably null |
Het |
| Extl2 |
A |
T |
3: 116,027,482 |
H312L |
possibly damaging |
Het |
| Fat4 |
C |
A |
3: 38,890,579 |
A1207D |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,926,518 |
|
probably benign |
Het |
| Hdac10 |
G |
T |
15: 89,123,868 |
A593E |
possibly damaging |
Het |
| Hdhd2 |
T |
C |
18: 76,965,273 |
|
probably null |
Het |
| Kdm7a |
A |
G |
6: 39,165,130 |
F405L |
probably damaging |
Het |
| Lypd6b |
C |
A |
2: 49,943,630 |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,694,922 |
D2794E |
possibly damaging |
Het |
| Mtmr14 |
T |
A |
6: 113,266,326 |
F40I |
probably damaging |
Het |
| Olfr131 |
G |
T |
17: 38,082,653 |
S108R |
possibly damaging |
Het |
| Olfr213 |
T |
A |
6: 116,541,007 |
C185S |
probably damaging |
Het |
| Olfr476 |
A |
T |
7: 107,967,534 |
I46F |
probably damaging |
Het |
| Olfr986 |
A |
T |
9: 40,187,756 |
I214F |
probably benign |
Het |
| Ppargc1a |
C |
A |
5: 51,474,322 |
V322L |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 147,029,697 |
M917K |
probably benign |
Het |
| Prkg2 |
C |
T |
5: 98,969,936 |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,868,382 |
E296G |
possibly damaging |
Het |
| Rfx8 |
T |
A |
1: 39,682,950 |
K292* |
probably null |
Het |
| Scamp3 |
C |
A |
3: 89,177,666 |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,330,364 |
I823N |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,830,842 |
V1316A |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,573,673 |
V1794A |
probably damaging |
Het |
| Stard8 |
G |
T |
X: 99,073,088 |
R983L |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,192,675 |
D311E |
probably benign |
Het |
| Tex21 |
T |
C |
12: 76,198,818 |
H568R |
probably benign |
Het |
| Tex35 |
T |
C |
1: 157,105,097 |
|
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,591,292 |
F442I |
possibly damaging |
Het |
| Traf2 |
C |
A |
2: 25,524,919 |
C303F |
probably benign |
Het |
| Trim56 |
A |
T |
5: 137,114,500 |
V54D |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,306,542 |
R338* |
probably null |
Het |
| Zfp668 |
A |
T |
7: 127,866,282 |
C577S |
probably damaging |
Het |
|
|---|
| Other mutations in Kcnq2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02064:Kcnq2
|
APN |
2 |
181109026 |
missense |
probably damaging |
1.00 |
|
IGL02231:Kcnq2
|
APN |
2 |
181081715 |
missense |
probably benign |
0.22 |
|
IGL02261:Kcnq2
|
APN |
2 |
181081690 |
missense |
probably damaging |
0.98 |
|
IGL02510:Kcnq2
|
APN |
2 |
181081361 |
missense |
probably benign |
|
|
IGL02583:Kcnq2
|
APN |
2 |
181081502 |
missense |
probably benign |
0.01 |
|
IGL02627:Kcnq2
|
APN |
2 |
181082327 |
unclassified |
probably benign |
|
|
IGL03303:Kcnq2
|
APN |
2 |
181082389 |
missense |
probably benign |
|
|
R0269:Kcnq2
|
UTSW |
2 |
181096974 |
missense |
probably benign |
0.00 |
|
R1535:Kcnq2
|
UTSW |
2 |
181134825 |
missense |
probably damaging |
1.00 |
|
R1688:Kcnq2
|
UTSW |
2 |
181087033 |
missense |
probably damaging |
1.00 |
|
R1776:Kcnq2
|
UTSW |
2 |
181100557 |
missense |
probably benign |
0.01 |
|
R1946:Kcnq2
|
UTSW |
2 |
181088451 |
missense |
probably benign |
0.09 |
|
R2105:Kcnq2
|
UTSW |
2 |
181081352 |
missense |
probably benign |
0.03 |
|
R2382:Kcnq2
|
UTSW |
2 |
181112107 |
missense |
probably damaging |
1.00 |
|
R2912:Kcnq2
|
UTSW |
2 |
181081774 |
missense |
probably damaging |
1.00 |
|
R3826:Kcnq2
|
UTSW |
2 |
181104900 |
missense |
possibly damaging |
0.56 |
|
R3898:Kcnq2
|
UTSW |
2 |
181109686 |
missense |
probably damaging |
0.97 |
|
R4282:Kcnq2
|
UTSW |
2 |
181081153 |
missense |
probably damaging |
1.00 |
|
R4938:Kcnq2
|
UTSW |
2 |
181086973 |
missense |
probably damaging |
0.96 |
|
R4962:Kcnq2
|
UTSW |
2 |
181112043 |
missense |
possibly damaging |
0.59 |
|
R5055:Kcnq2
|
UTSW |
2 |
181086761 |
intron |
probably benign |
|
|
R5107:Kcnq2
|
UTSW |
2 |
181108547 |
intron |
probably benign |
|
|
R5371:Kcnq2
|
UTSW |
2 |
181135020 |
missense |
probably damaging |
1.00 |
|
R5557:Kcnq2
|
UTSW |
2 |
181134897 |
missense |
probably benign |
0.07 |
|
R5839:Kcnq2
|
UTSW |
2 |
181109751 |
missense |
probably damaging |
1.00 |
|
R5998:Kcnq2
|
UTSW |
2 |
181087008 |
missense |
probably damaging |
1.00 |
|
R6084:Kcnq2
|
UTSW |
2 |
181087656 |
missense |
possibly damaging |
0.53 |
|
R6207:Kcnq2
|
UTSW |
2 |
181113233 |
missense |
possibly damaging |
0.49 |
|
R6744:Kcnq2
|
UTSW |
2 |
181085306 |
missense |
possibly damaging |
0.94 |
|
R7018:Kcnq2
|
UTSW |
2 |
181081724 |
nonsense |
probably null |
|
|
R7266:Kcnq2
|
UTSW |
2 |
181135092 |
start codon destroyed |
probably null |
0.92 |
|
R7291:Kcnq2
|
UTSW |
2 |
181088379 |
missense |
possibly damaging |
0.69 |
|
R7319:Kcnq2
|
UTSW |
2 |
181109102 |
missense |
probably damaging |
1.00 |
|
R7447:Kcnq2
|
UTSW |
2 |
181113094 |
missense |
probably damaging |
0.97 |
|
R7573:Kcnq2
|
UTSW |
2 |
181081589 |
missense |
probably benign |
0.04 |
|
R7897:Kcnq2
|
UTSW |
2 |
181081141 |
missense |
probably damaging |
1.00 |
|
|---|
| Posted On | 2013-06-21 |
|---|
